Showing 1 - 14 results of 14 for search 'Elisa De Franco', query time: 0.05s
Refine Results
-
1
-
2
-
3
-
4
-
5
-
6
-
7
Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome by Vera Splittstoesser, Heike Vollbach, Michaela Plamper, Werner Garbe, Elisa De Franco, Jayne A. L. Houghton, Gesche Dueker, Rainer Ganschow, Bettina Gohlke, Felix Schreiner
Published 2021-04-01
Article -
8
SavvyCNV: Genome-wide CNV calling from off-target reads. by Thomas W Laver, Elisa De Franco, Matthew B Johnson, Kashyap A Patel, Sian Ellard, Michael N Weedon, Sarah E Flanagan, Matthew N Wakeling
Published 2022-03-01
Article -
9
Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6 by Radka Savova, Elisa De Franco, Charles Shaw-Smith, Ralitza Georgieva, Maia Konstantinova, Margarita Archinkova, Emilia Panteleeva, Anna Kaneva, Rumen Marinov, Sian Ellard, Andrew Hattersley
Published 2018-01-01
Article -
10
Infancy‐onset diabetes caused by de‐regulated AMPylation of the human endoplasmic reticulum chaperone BiP by Luke A Perera, Andrew T Hattersley, Heather P Harding, Matthew N Wakeling, Sarah E Flanagan, Ibrahim Mohsina, Jamal Raza, Alice Gardham, David Ron, Elisa De Franco
Published 2023-03-01
Article -
11
Case Report: Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins by Shira London, Elisa De Franco, Ghadir Elias-Assad, Ghadir Elias-Assad, Marie Noufi Barhoum, Marie Noufi Barhoum, Marie Noufi Barhoum, Clari Felszer, Marina Paniakov, Scott A. Weiner, Yardena Tenenbaum-Rakover, Yardena Tenenbaum-Rakover
Published 2021-05-01
Article -
12
Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations by Can Thi Bich Ngoc, Can Thi Bich Ngoc, Vu Chi Dung, Elisa De Franco, Nguyen Ngoc Lan, Bui Phuong Thao, Nguyen Ngoc Khanh, Sarah E. Flanagan, Maria E. Craig, Maria E. Craig, Nguyen Huy Hoang, Tran Minh Dien
Published 2022-04-01
Article -
13
Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children’s Hospital by Can Thi Bich Ngoc, Tran Minh Dien, Elisa De Franco, Sian Ellard, Sian Ellard, Jayne A. L. Houghton, Nguyen Ngoc Lan, Bui Phuong Thao, Nguyen Ngoc Khanh, Sarah E. Flanagan, Maria E. Craig, Maria E. Craig, Vu Chi Dung
Published 2021-09-01
Article -
14
The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion by Rinki Murphy, Kevin Colclough, Toni I. Pollin, Jennifer M. Ikle, Pernille Svalastoga, Kristin A. Maloney, Cécile Saint-Martin, Janne Molnes, ADA/EASD PMDI, Shivani Misra, Ingvild Aukrust, Elisa de Franco, Sarah E. Flanagan, Pål R. Njølstad, Liana K. Billings, Katharine R. Owen, Anna L. Gloyn
Published 2023-10-01
Article